ArticleRNA (New York, N.Y.)2009
Dyskeratosis congenita mutations in the H/ACA domain of human telomerase RNA affect its assembly into a pre-RNP.
Article in RNA (New York, N.Y.), 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 49 citations in OpenAlex.
- Inflammation in Development and Aging: Insights from the Zebrafish Model.International journal of molecular sciences · 2024Review
- Telomerase-Mediated Anti-Ageing Interventions.Sub-cellular biochemistry · 2024Review
- HumanFrontiers in genetics · 2023Article
- Telomerase RNA recruits RNA polymerase II to target gene promoters to enhance myelopoiesis.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Regulation of human telomerase RNA biogenesis and localization.RNA biology · 2021Review
- The role of mMolecular cancer · 2021Review
- The Connection Between Cell Fate and Telomere.Advances in experimental medicine and biology · 2021Review
- Regulation of human telomerase in homeostasis and disease.Nature reviews. Molecular cell biology · 2020Review
- Human Telomerase RNA: Telomerase Component or More?Biomolecules · 2020Review
- Catalysis-dependent inactivation of human telomerase and its reactivation by intracellular telomerase-activating factors (iTAFs).The Journal of biological chemistry · 2019Article
- Guide snoRNAs: Drivers or Passengers in Human Disease?Biology · 2018Review
- LARP7 family proteins have conserved function in telomerase assembly.Nature communications · 2018Article
- Article
- Towards an understanding of regulating Cajal body activity by protein modification.RNA biology · 2017Review
- Identification of processing elements and interactors implicate SMN, coilin and the pseudogene-encoded coilp1 in telomerase and box C/D scaRNP biogenesis.RNA biology · 2016Article
- Telomerase Regulation from Beginning to the End.Genes · 2016Review
- The molecular genetics of the telomere biology disorders.RNA biology · 2016Review
- SMN and coilin negatively regulate dyskerin association with telomerase RNA.Biology open · 2016Article
- The Kink Turn, a Key Architectural Element in RNA Structure.Journal of molecular biology · 2016Review
- On the road with WRAP53β: guardian of Cajal bodies and genome integrity.Frontiers in genetics · 2015Review
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
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Abstract
Dyskeratosis congenita (DC) is an inherited disorder that implicates defects in the biology of telomeres, which are maintained by telomerase, a ribonucleoprotein with reverse transcriptase activity. Like all H/ACA RNAs, the H/ACA domain of nascent human telomerase RNA (hTR) forms a pre-RNP with H/ACA proteins NAF1, dyskerin, NOP10, and NHP2 in vivo. To assess the pre-RNP assembly of hTR mutants that poorly accumulate in vivo, we developed an in vitro system that uses components of human origin. Pre-RNPs were reconstituted with synthetic (32)P-labeled RNAs and (35)S-labeled proteins produced in rabbit reticulocyte lysate, and immunoprecipitations were carried out to analyze RNP formation. We show that human NAF1 cannot bind directly to the H/ACA domain of hTR, and requires the core trimer dyskerin-NOP10-NHP2 to be efficiently incorporated into the pre-RNP. This order of assembly seems common to H/ACA RNAs since it was observed with snoRNA ACA36 and scaRNA U92, which are predicted to guide pseudouridylation of 18S rRNA and U2 snRNA, respectively. However, the processing H/ACA snoRNA U17 did not conform to this rule, as NAF1 alone was able to bind it. We also provide the first evidence that DC-related mutations of hTR C408G and Delta378-451 severely impair pre-RNP assembly. Integrity of boxes H and ACA of hTR are also crucial for pre-RNP assembly, while the CAB box is dispensable. Our results offer new insights into the defects caused by some mutations located in the H/ACA domain of hTR.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.